After the loss of her first baby early in the pregnancy, Rachel Casella and her husband, Jonny, did everything they could to ensure the success of the next one.mylifeof_love/Instagram
As Casella wrote for Mamamia, for six months before falling pregnant a second time, the couple did everything they could to prepare:
Based on advice, we did every test and pre-pregnancy preparation we thought we needed to give us the best chance for a healthy baby.
On March 11, 2017, a “planned for, very loved” baby Mackenzie was born. An initial checkup revealed the newborn had a heart murmur which doctors advised would heal on its own. By eight weeks the murmur had healed, but Casella was growing concerned over her baby’s feeding habits.mylifeof_love/Instagram
The ten-week-old was “pulling off” when she breastfed and crying after each feeding, according to the Daily Mail. Casella visited a lactation consultant who said there was nothing amiss with the baby’s feeding but noted she was “floppy.”
Casella wrote she denied the lactation consultant’s observations at first:
My initial thought was, “No, she isn’t, she is perfect.”
The consultant then compared Mackenzie’s lack of movement to another baby her age:
Then the nurse pointed to a baby boy on the change mat next to Kenzie and said, “He is about 10 weeks old and that is what she should be doing.” When I looked, I saw that this baby was on his tummy and had pushed his chest off the ground with his forearms. My stomach sank. I knew something was wrong. Kenzie didn’t do that.
Casella was advised that the baby be examined by a doctor. For the days leading up to her daughter’s appointment Casella believed everything could be explained by a simple lack of tummy time:
For the next two days we both watched her carefully. We justified each movement, practiced swatting at her hands and even forced her to do the tummy time that she hated so much. She cried every time. Jonny convinced himself that it was our fault that she was so floppy and weak, and that somehow we hadn’t done enough tummy time exercise with her.
Two days later we walked into a paediatrician’s office. I have never felt so nervous in my life. I was nauseous, my whole body tingled with fear, and my palms were sweaty. I felt faint. The paediatrician asked us a few questions and then asked us to undress her, apart from her nappy. Then he moved her around, as she lay on the examination table, watching how she reacted. I was watching her so closely. I kept thinking, “This is MY baby, she is fine. We just have to do more tummy time with her.”
Unfortunately, doctors later diagnosed Mackenzie with Spinal Muscular Atrophy (SMA) type 1, the most severe form of the genetic disease. The baby’s prognosis was terminal.mylifeof_love/Instagram
My mind kept saying, “This isn’t happening, this isn’t happening. He is wrong!” … But I knew that he wasn’t. I picked her up and rocked her, and myself. At one stage, I turned to Jonny and said, “What just happened?” We had walked into that office thinking we were lagging in her tummy time, just a simple developmental delay, but now… it felt like, “How is this happening? It isn’t. It can’t be!”
According to the Muscular Dystrophy Association (MDA), SMA is a genetic disease affecting the part of the nervous system that controls voluntary muscle movement. The age at which symptoms appear “roughly correlates” to the degree of severity; the earlier symptoms begin, the greater the impact on motor function.
Newborns and babies with SMA are usually very weak, have difficulty breathing, sucking and swallowing, and are not able to sit on their own, reports MDA. The Daily Mail reports that according to Spinal Muscular Atrophy Australia Inc. CEO Julie Cini,, in cases of SMA type 1, the disease is usually fatal within the first 12 months of life.mylifeof_love/Instagram
In Mackenzie’s case, Casella was informed her baby didn’t have much time. The disease would progress rapidly, the mom was told.
In October, Mackenzie came down with a cold but due to her breathing muscles and lungs not being strong enough to clear the mucus, it collected in her lungs, causing her right lung to collapse. Casella wrote:
The first sign we knew that something was very wrong was when she began to struggle to breathe and stopped breathing briefly.
Days later, without hope of recovery, the Casellas took off Mackenzie’s oxygen mask.mylifeof_love/Instagram
After some time spent cuddling and talking to her, I changed her nappy, washed her. Together, we dressed her, and wrapped her in a blanket. I picked her up and walking beside Jonny, I carried her down to the morgue. Together we placed her on the table because we did not want anyone else to do it. She was just a baby, our little girl. We didn’t want to lose her. But we did. Our hearts are forever broken, missing a piece.
Casella shared her story of loss and grief in an effort to encourage anyone planning on having children to undergo genetic testing to determine if they carry recessive genetic disorders.mylifeof_love/Instagram
Though Casella and her husband had undergone a plethora of testing before conceiving Mackenzie, Casella told the Daily Mail she wasn’t offered a test for SMA:
“There is a simple blood test that can be performed to find out if you are a carrier. It just makes me sad because when I was pregnant, I took all sorts of tests, for genetic conditions — and did everything I was recommended.
I was never offered this, and had I known about it, I would have done it.”
SMA is the number one genetic killer in babies under two, and there is no cure for SMA, according to the Daily Mail.mylifeof_love/Instagram
A GoFundMe account has been set up to help Mackenzie’s family with her medical expenses. The Spinal Muscular Atrophy Foundation will also donate 100 percent of every dollar to finding a treatment for the genetic disease.
Casella wrote: “Please make Mackenzie’s short life have purpose — get yourselves carrier tested. It is easy. Protect your family. Change for Mackenzie.”